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Step 1 2019 First Aid Flashcards > Heme - FA Patho p396-427 > Flashcards

Heme - FA Patho p396-427 Flashcards

1
Q

Name heme pathologies that show an X linked inheritance pattern?

A

G6PD Deficiency, Sideroblastic Anemia, Hemophilia A & B

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2
Q

Copper deficiency can lead to this heme pathology?

A

Microcytic Sideroblastic Anemia

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3
Q

Clinical presentation of a pt with Iron Deficiency Anemia

A

Conjunctival Pallor, Spooned Nails (koilonychia)

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4
Q

Describe the genetic defect in Alpha thalassemia? Which mutation is affiliated with which population?

A

Deletion in alpha globin gene (Ch 16). Cis deletion prevalent in Asians, Trans deletion prevalent in Africans

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5
Q

Describe the genetic defect in Beta thalassemia? Which mutation is affiliated with which population?

A

Point mutation in the beta globin gene promoter and splice sites (Ch 11). Prevalent in Mediterranean populations

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6
Q

What causes formation of Heinz bodies?

A

Oxidation of Hgb -SH groups to -S-S leads to Hgb precipitation = Heinz bodies

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7
Q

Crew cut on skull XR, Chipmunk Facies, Extramedullary hematopoiesis

A

B thalassemia major

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8
Q

Which virus can induce aplastic crisis (Clinical Presentation)? Name the heme pathologies associated with it.

A

Parvovirus B19 infection leads to slap cheek appearance in pts Patients with aplastic crisis: SCA, B Thalassemia

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9
Q

What is basophilic stippling?

A

Remnants of rRNA in RBCs due decreased degradation

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10
Q

Clinical Presentation of Lead Poisoning?

A

Lead lines on gums (Burton lines) and long bone metaphyses Encephalopathy Abdominal colic Dropping of wrist and foot

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11
Q

Name the enzymes inhibited by Lead

A

Ferrochelatase, ALA Dehydratase

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12
Q

DOC for Lead poisoning in Adults?

A

Dimercaprol, EDTA

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13
Q

DOC for Lead poisoning in Children?

A

Succimer

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14
Q

What is the most common cause of Sideroblastic Anemia ? Is it Irreversible?

A

Alcoholism which is reversible if given B6 as Tx

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15
Q

Which three drugs are associated with folate deficiency?

A

Methotrexate, Trimethoprim, Phenytoin

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16
Q

Where do you see subacute combined degeneration of the spino cerebellar tract?

A

B12 def - along with lat corticospinal tract, dorsal column dysfunction

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17
Q

How do you differentiate Orotic aciduria from Ornithine transcarbamylase def?

A

There is no hyperammonemia with Orotic aciduria

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18
Q

Most common causes of macrocytic anemia that is not megaloblastic?

A

Alcoholism, lIver disease, hypothyroidism,

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19
Q

Defective enzyme in Orotic aciduria? Substrate?

A

Orotic Acid –> UMP, done by UMP synthase

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20
Q

Short stature, thumb and radial defects?

A

Diamond Blackfan anemia and Fanconi anemia

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21
Q

Two heme diseases with inc HbF?

A

B thalassemia major, Diamond blackfan anemia

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22
Q

dec haptoglobin, inc LDH, target cells seen in ?

A

intravascular hemolysis

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23
Q

Urine test shows Hgb, hemosiderin, and urobilinogen?

A

Intravacular hemolysis

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24
Q

iron def anemia, esophageal webs, dysphagia

A

Plummer Vinson syndrome

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25
Q

Which 3 GI issue can lead to iron def anemia?

A

Malabsorption - celiac, etc
GI bleed - ulcers, colon cancer

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26
Q

Genetic mutation in B thalassemia?

A

Point mutation in splice site and promoter sequences - C replaces Guanine before AUG seq – dec mRNA

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27
Q

Type of genetic defect in sideroblastic anemia?

A

X linked defect in delta- ALA synthase - req B6 as cofactor

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28
Q

Rx for Sideroblastic anemia

A

B6 (pyridoxine)

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29
Q

Inc risk of gallstones and BM hyperplasia with what type of hematological disordeR?

A

extravascular hemolysis

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30
Q

Iron, TIBC, ferritin - inc or dec in ACD (anemia of chronic disease)?

A

Dec FE, TIBC (indicator of transferrin) Inc Ferritin

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31
Q

What differentiates Diamond Blackfan from Fanconi Anemia?

A

Fanconi has cafe au lait spots

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32
Q

Is retic # inc or dec with aplastic anemia?

A

Dec

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33
Q

Most common congenital cause of Aplastic anemia?

A

Fanconi anemia

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34
Q

MCV and MCHC in heriditary spherocytosis ?

A

Inc MCHC (bc no central pallor) and normal to low MCV

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35
Q

Dec ATP production is a part of the pathogenesis of what heme disorder?

A

Pyruvate kinase deficiency - dec ATP will lead to rigid RBCs –> extravasc hemolysis

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36
Q

What amino acid mutation in HbC disease?

A

glutamic acid to lysine in B globin chain

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37
Q

CD marker in Paroxysmal nocturnal hemoglobinuria?

A

CD 55/59

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38
Q

Tx for Paroxysmal nocturnal hemoglobinuria?

A

Eculizumab - complement inhibitor

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39
Q

Pathogenesis of PNH?

A

Impaired synthesis of GPI anchor for decay accelerating factor that protects RBC from complement

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40
Q

Why are newborns normally asymptomatic in sickle cell?

A

They have higher hbF and lower HbS

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41
Q

Why is there a crew cut skull in thalassemia major and Sickle cell?

A

Marrow expansion due to inc erythropoiesis

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42
Q

What renal issue in Sickle cell and why?

A

Renal papillary necrosis - due to dec pO2 in papilla

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43
Q

Why give hydroxyurea in Sickle cell?

A

Inc the amount of HbF

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44
Q

Sickle cell osteomyelitis is assoc with which bact?

A

Salmonella paratyphi

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45
Q

What Ig is seen in Warm AIHA and Cold AIHA?

A

IgG and IgM

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46
Q

Which 3 pathologies are associated with cold agglutination AIHA?

A

Mycoplasma pneumoniae, Infectious Mono, CLL

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47
Q

Drug assoc with Warm AIHA?

A

methyldopa (alpha)

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48
Q

Microangiopathic hemolytic anemia seen in which diseases? (6)

A

DIC, TTP, HUS, SLE, Malig HTN, HELLP

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49
Q

Two diseases associated wtih macroangiopathic anemia?

A

Prosthetic heart valves and aortic stenosis

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50
Q

What is mixed with patients blood in Direct coombs test?

A

anti Ig antibody

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51
Q

What in patients serum will yield a positive result in indirect coombs test?

A

If serum has anti RBC surface Ig, RBC will agglutinate = pos result

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52
Q

What is the difference in Labs between ACD and Hemochromatosis?

A

Both have low TIBC and and high ferritin, but Hemochromatosis has high Fe levels and also high %transferrin sat’n therefore.

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53
Q

Neutropenia cut off point?

A

<1500 cell/mm3

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54
Q

Lymphopenia cut off point?

A

<1500 cell/mm3 (<3000 cells/mm3 in children)

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55
Q

Which drug causes neutrophilia, inspite of eosinopenia and lymphopenia?

A

Corticosteroids (dec activation of neutrophil adhesion molecules, dec migration out, stay in blood - However, tend to keep eosinophils in l.n and cause lymphocyte apoptosis )

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56
Q

Enzymes def in lead poisoning?

A

ALA DH, and Ferro chelatase - “Dont eat DAH Fucking Lead!”

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57
Q

5 Ps of Acute intermittent porphyrias?

A

Painful stomach, Port wine colored urine, Polyneuropathy, Psych issues, Precipitated by drugs, etc

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58
Q

Tx for AIP? (2) Why?

A

Glucose and Heme, they inhibit ALA synthase

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59
Q

Enzyme def in AIP?

A

PBG deaminase

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60
Q

Which HIV drugs are CI with Acute Intermittent Porphyria?

A

NNRTIs - Nevirapine, Efavirenz (p450 inducer)

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61
Q

Def enzyme in Porphyria cutanea tarda?

A

UPG decarboxylase

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62
Q

Which is the most common Porphyria?

A

PCTarda

63
Q

Which pathology is assoc with def in ALA synthase?

A

Sideroblastic anemia - S = synthase and sideroblastic

64
Q

Which porphyria is assoc with photosensitivity?

A

PCT

65
Q

What causes cell death due to peroxidation of membrane lipids?

A

Fe poisoning

66
Q

Symptoms of Fe poisoning?

A

n/v, gastric bleeding, lethargy, scarring leading to GI obstruction

67
Q

Drugs used for Fe poisoning?

A

Chelation - IV deferoxamine, oral deferasirox

68
Q

Which factors are tested in PT?

A

Factors I, II, V, VII, and X

69
Q

Which factors are not tested in PTT?

A

All factors except VII and XIII

70
Q

Inheritance patterns of all three hemophilias?

A

Hemophilia A and B - XLR, and C is AR

71
Q

Tx for Hemophilia A?

A

Desmopressin + factor VIII concentrate

72
Q

Vitamin K def will have an increase in what lab tests?

A

PT and PTT, Bleeding time is Normal

73
Q

What parts of the coag pathway are affected by Vit K def?

A

F II, VII, IX, X, and Prot C and S

74
Q

Which 3 hemat diseases have an issue with platelet plug formation?

A

Both Bernard Soulier, Glanzmann thrombasthenia, vW disease

75
Q

Which platelet disorder has normal platelet count?

A

Glanzmann , vW disease

76
Q

With which heme disorder will you potentially see enlarged platelets?

A

Bernard Soulier - release of relatively immature platelets to replace loss.

77
Q

Which heme disorder is associated with inc BUN ?

A

TTP, DIC, Hemolytic Uremic Syndrome, PNH, Sickle Cell, porphyria, Multple Myeloma

78
Q

What enzyme activates vit K?

A

vit K epoxide reductase

79
Q

Normal bleeding time?

A

2-7 min

80
Q

Normal PT time?

A

11-15 sec

81
Q

Normal PTT time?

A

25-40 sec

82
Q

Which two hematological disorders affect GpIIb/IIIa? How do they effect it?

A

Glanzmann - dec levels of GpIIb/IIIa Immune Thrombocytopenia - anti GpIIb/IIIa antibodies

83
Q

Which hemat disorder show inc megakaryocytes on bone marrow biopsy?

A

ITP

84
Q

Which hemat disorder has a def of metalloprotease?

A

TTP - ADAMTS 13 = vWF metalloprotease

85
Q

Schistocytes are seen in which platelet disorder? why?

A

TTP - due to microthrombi formation (inc vWF multimers –> Inc platelet adhesion –> Inc platelet aggregation and thrombosis) DIC, HUS

86
Q

Which (3) hemat disorders have neurological symptoms?

A

TTP - pentad of neuro/renal symptoms, fever, thrombocytopenia, fever, microangiopathic hemolyic anemia

Lead poisoning

B12 def

87
Q

What is the difference between HUS in adults and children?

A

Children tend to have diarrhea, adults do not.

88
Q

Most common cause of dec platelet #?

A

ITP

89
Q

Which blood tests are elevated in vW disease?

A

BT inc, and PTT may be normal or Inc

90
Q

Explain the Ristocetin test result of vW Disease?

A

No platelet aggregation, without vW.

91
Q

Which two hemat diseases are treated with desmopressin?

A

Hemophilia A, vW disease (affiliated with FVIII)

92
Q

Causes of DIC?

A

Sepsis, Trauma, Obstetric complications, acute Pancreatitis, Malignancy, Nephrotic syndrome, Transfusion, snake bite

93
Q

Lab values of DIC?

A

Inc fibrin degradation, dec fibrinogen, Dec factors V and VIII

94
Q

How does Antithrombin deficiency affect PT, PTT, and thrombin time? It can affect which of those values following an admin of which drug?

A

No direct effect on PT, PTT, or thrombin time. However, it can decrease the level of PTT increase following Heparin admin. (PTT is normally used to follow Heparin admin)

95
Q

Nephrotic syndrome is associated with which two coagulation disorders?

A

DIC and Antithrombin deficiency

96
Q

What type of mutation in FV Leiden?

A

DNA point mutation, G –> Arg506Gln

97
Q

The mutation is FV Leiden def stops its degradation by what protein?

A

Prot C

98
Q

Most common cause of hypercoagulability in Caucasians?

A

F V Leiden

99
Q

What issue specific to women must one be concerned about in terms of FV Leiden def?

A

1) Inc risk of PE with OCP 2) Recurrent pregnancy loss

100
Q

Prot C and S def will lead inability to inhibit which factors?

A

Factor Va and VIIIa

101
Q

Be careful with prescribing which anti-coag when it comes to Prot C or S def?

A

Warfarin - inc risk of skin necrosis

102
Q

location of Gene mutation of Prothrombin?

A

Mutation in 3’ UTR

103
Q

Risk associated with blood transfusion?

A

transfusion reactions, Fe overload (could lead to 2ndary hemochromatosis) hypocalcemia, hyperkalemia

104
Q

Viruses associated with Hodgkins and Non Hodgkins lymphoma?

A

Hodkins - EBV

Non Hodkins - EBV, HIV, HTLV

105
Q

Which type of lymphoma is assoc with B symptoms? What are those symptoms?

A

Both hodgkin’s and non hodgkin’s low grade fever, night sweats, weight loss

106
Q

CD # of Reed-Sternberg cells?

A

CD15, CD30

107
Q

What are the two genes affected in Burkitts? (not the translocation itself, but the products of them)

A

Chr 8 - c -myc Chr 14 - Ig heavy chain

108
Q

Tingible body macrophages associated with?

A

Burkitts

109
Q

What type of lesion is seen in the sporadic form of Burkitts?

A

Pelvis and abdomen lesions

110
Q

Most common type of Non Hodgkin’s in adults?

A

Diffuse large B cell lymphoma

111
Q

Why can blood transfusions lead to tingling sensations and paresthesias?

A

hypocalcemia

112
Q

Gene products of the genes translocated in Mantle cell lymphoma?

A

Chr 11 - cyclin D1 (G1–> S) Chr 14 - Ig heavy chain

113
Q

What are the gene products of the gene translocation of Follicular lymphoma?

A

Chr 14 - Ig heavy chain Chr 18 - bcl2

114
Q

Which lymphoma presents with intermittent pain of lymph nodes?

A

Follicular lymphoma

115
Q

What are the cell types in grades 1-3 of Follicular lymphoma?

A

Grade 1 - small cleaved cells Grade 2 - Mixed Grade 3 - large cells

116
Q

Name an AIDS defining lymphoma?

A

Primary Central Nervous System Lymphoma

117
Q

Presentation of PCNSL? Assoc with which virus?

A

Confusion, memory loss, seizures - assoc with EBV

118
Q

3 diseases with mass lesions in CNS?

A

Toxoplasmosis, PCNL, GBM

119
Q

Which lymphoma is associated with cutaneous lesion and tremor?

A

ATCL (Adult T cell ), tremor due to hypercalcemia, also associated with lytic bone lesions

120
Q

Which condition is associated with lymphocytes with cerebriform nuclei? What CD #?

A

Mycosis Fungoides, CD 4+

121
Q

Ig associated with M spike in Mult myeloma and in Waldenstrom macroglobulinemia?

A

MM - IgG, IgA WM - IgM

122
Q

What does the M in M spike mean?

A

M is not for IgM, but for Monoclonal - one clonal type of Ig

123
Q

What type of amyloidosis seen in MM?

A

Primary (AL)

124
Q

What are Bence Jones proteins?

A

Ig light chains

125
Q

Name two signs of MM you’d see in a blood smear?

A

Stacked RBC (rouleaux) and plasma cells with “clock face” chromatin

126
Q

The intracytoplasmic inculsions of plasma cells in MM contain what?

A

Ig

127
Q

Clinical diff between MGUS and MM?

A

There are no Crab findings - C - HyperCalcemia R - Renal issues (due to BJ prot blocking tubules) A - Amyloid, Anemia (plasma cells taking BM) B - Bone lytic lesions, Back pain, Bence- Jones

128
Q

What hematological issue has visual defect, bleeds, strokes, Raynauds?

A

Waldenstrom Macroglobulinemia - Sx from hyperviscosity

129
Q

Neutrophils with bilobed nuclei seen after chemo?

A

Pseudo Pelger Huet anomaly

130
Q

Causes of MDS?

A

de novo mutations, environmental (radiation, benzene, chemo)

131
Q

MDS can lead to what type of leukemia?

A

AML

132
Q

What is the Warburg effect, esp in relation to Burkitt’s

A

Cmyc - nucl phosphated prot –> transcription of activator that controls cell proliferation, differentiation, and apoptosis –> leads to upreg of anaerobic gycolysis = Warburg Effect Warburg Effect - is the observation that most cancer cells predominantly produce energy by a high rate of glycolysis followed by lactic acid fermentation in the cytosol, rather than by a comparatively low rate of glycolysis followed by oxidation of pyruvate in mitochondria as in most normal cells.

133
Q

Desmopressin also used in what neuro issue?

A

Enuresis

134
Q

What disease looks very similar clinically to FV Leiden def?

A

Anti phospholipid syndrome

135
Q

Deferoxamine is also used in what chemo drug tox?

A

Doxorubicin

136
Q

path associated with recurrent otitis media with mass involving the mastoid bone?

A

Langerhans cell histiocytes

137
Q

2 options to correct factor def?

A

cryoprecipitate and fresh frozen plasma

138
Q

what is the name for leukemic cell infiltration to skin?

A

leukemia cutis

139
Q

in ALL what two parts of organs are easily affected and why?

A

CNS and testes

140
Q

in ALL, what CD marker is found in pre-B cell only?

A

CD10

141
Q

in ALL, what is the marker for both pre-T and pre-B cell?

A

tDt

142
Q

what path mimics the SVC syndrome?

A

ALL (mediastinal mass)

143
Q

name 2 blood malignancies associated with splenomegaly?

A

CML, Hairy cell leukemia, Myelofibrosis

144
Q

name 2 blood malignancies associated with dry tap of the bone marrow aspiration

A

hairy cell leukemia, myelofibrosis

145
Q

in myelofibrosis, what is responsible for the obliteration of bone marrow?

A

inc fibroblast activity

146
Q

what path is associated with intense itching after shower ?

A

polycythemia vera due to inc basophil

147
Q

what leukemia is associated with CD5 marker?

A

small lymphocytic lymphoma/chronic lymphocytic leukemia

148
Q

in CML, LAP is low why?

A

low activity in mature granulocyte (vs. leukemoid reaction when LAP is high)

149
Q

3 paths associated with inc ectopic EPO

A
  1. renal cell carcinoma 2. hepatocellular carcinoma 3. hydronephrosis
150
Q

3 examples with dec O2 sat leading to high EPO

A
  1. lung dz 2. congenital heart dz (Eisenmenger) 3. high altitude
151
Q

in heparin induced thrombocytopenia what is the target of the IgG antibodies?

A

heparin bound platelet factor 4

152
Q

what is the most common adult leukemia?

A

SLL/CLL

153
Q

what gene is activated in mantle cell lymphoma?

A

cyclin D1

Step 1 2019 First Aid Flashcards (63 decks)

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